Incidental Mutation 'R5251:Prl7d1'
| ID |
399055 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prl7d1
|
| Ensembl Gene |
ENSMUSG00000021348 |
| Gene Name |
prolactin family 7, subfamily d, member 1 |
| Synonyms |
Plfr, PLF-RP, PRP |
| MMRRC Submission |
042822-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5251 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
27892981-27900720 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 27893227 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 228
(N228S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153033
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021776]
[ENSMUST00000224026]
|
| AlphaFold |
P04769 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021776
AA Change: N227S
PolyPhen 2
Score 0.283 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000021776
Gene: ENSMUSG00000021348
AA Change: N227S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hormone_1
|
17 |
240 |
1.1e-78 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224026
AA Change: N228S
PolyPhen 2
Score 0.331 (Sensitivity: 0.90; Specificity: 0.89)
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 92.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afap1 |
A |
T |
5: 36,108,236 (GRCm39) |
E194V |
probably damaging |
Het |
| Ankrd16 |
T |
A |
2: 11,783,552 (GRCm39) |
D51E |
probably damaging |
Het |
| Arhgef5 |
A |
G |
6: 43,249,815 (GRCm39) |
T189A |
possibly damaging |
Het |
| Camk4 |
A |
G |
18: 33,317,932 (GRCm39) |
D363G |
probably benign |
Het |
| Camta1 |
A |
G |
4: 151,248,341 (GRCm39) |
I199T |
probably damaging |
Het |
| Ccdc141 |
C |
T |
2: 76,858,118 (GRCm39) |
C1021Y |
probably damaging |
Het |
| Cdc34 |
C |
T |
10: 79,521,090 (GRCm39) |
S129L |
probably damaging |
Het |
| Cenph |
T |
A |
13: 100,898,348 (GRCm39) |
N185I |
possibly damaging |
Het |
| Colq |
A |
G |
14: 31,261,776 (GRCm39) |
|
probably null |
Het |
| Dph2 |
A |
T |
4: 117,747,543 (GRCm39) |
D280E |
probably damaging |
Het |
| Exosc5 |
A |
G |
7: 25,367,180 (GRCm39) |
Y224C |
probably damaging |
Het |
| Fgfr3 |
C |
T |
5: 33,892,900 (GRCm39) |
|
probably benign |
Het |
| Hs3st6 |
T |
A |
17: 24,976,959 (GRCm39) |
D146E |
probably benign |
Het |
| Igkv13-84 |
A |
T |
6: 68,916,772 (GRCm39) |
Q23L |
probably benign |
Het |
| Macf1 |
A |
G |
4: 123,343,760 (GRCm39) |
V2154A |
probably benign |
Het |
| Man1a2 |
T |
C |
3: 100,527,415 (GRCm39) |
E225G |
probably damaging |
Het |
| Mertk |
T |
C |
2: 128,571,375 (GRCm39) |
S110P |
probably damaging |
Het |
| Nav3 |
A |
G |
10: 109,689,114 (GRCm39) |
F388L |
probably damaging |
Het |
| Nme8 |
T |
C |
13: 19,844,795 (GRCm39) |
N98S |
probably benign |
Het |
| Nup205 |
A |
G |
6: 35,173,417 (GRCm39) |
|
probably null |
Het |
| Prss23 |
T |
C |
7: 89,159,530 (GRCm39) |
K180E |
probably damaging |
Het |
| Psap |
G |
A |
10: 60,137,479 (GRCm39) |
D549N |
probably damaging |
Het |
| Sec16a |
A |
G |
2: 26,329,357 (GRCm39) |
V886A |
probably benign |
Het |
| Sh2d1b2 |
A |
T |
1: 170,077,642 (GRCm39) |
E81D |
probably benign |
Het |
| Tbx6 |
A |
T |
7: 126,382,516 (GRCm39) |
N254I |
probably damaging |
Het |
| Tchhl1 |
T |
C |
3: 93,377,860 (GRCm39) |
V188A |
possibly damaging |
Het |
| Trpc3 |
A |
T |
3: 36,725,103 (GRCm39) |
L291Q |
probably damaging |
Het |
| Zbtb38 |
G |
T |
9: 96,569,161 (GRCm39) |
T641N |
probably benign |
Het |
|
| Other mutations in Prl7d1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01390:Prl7d1
|
APN |
13 |
27,894,149 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL01735:Prl7d1
|
APN |
13 |
27,898,372 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL02139:Prl7d1
|
APN |
13 |
27,896,066 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4305001:Prl7d1
|
UTSW |
13 |
27,898,320 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
PIT4531001:Prl7d1
|
UTSW |
13 |
27,894,161 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0555:Prl7d1
|
UTSW |
13 |
27,896,038 (GRCm39) |
missense |
probably benign |
0.13 |
|
R0625:Prl7d1
|
UTSW |
13 |
27,894,123 (GRCm39) |
missense |
probably benign |
0.10 |
|
R0631:Prl7d1
|
UTSW |
13 |
27,894,165 (GRCm39) |
missense |
probably benign |
0.32 |
|
R0837:Prl7d1
|
UTSW |
13 |
27,898,321 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1403:Prl7d1
|
UTSW |
13 |
27,893,180 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1403:Prl7d1
|
UTSW |
13 |
27,893,180 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1459:Prl7d1
|
UTSW |
13 |
27,893,240 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R1643:Prl7d1
|
UTSW |
13 |
27,896,114 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R1691:Prl7d1
|
UTSW |
13 |
27,893,365 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2016:Prl7d1
|
UTSW |
13 |
27,894,156 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3873:Prl7d1
|
UTSW |
13 |
27,900,651 (GRCm39) |
start codon destroyed |
probably null |
0.92 |
|
R3874:Prl7d1
|
UTSW |
13 |
27,900,651 (GRCm39) |
start codon destroyed |
probably null |
0.92 |
|
R5275:Prl7d1
|
UTSW |
13 |
27,893,230 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5295:Prl7d1
|
UTSW |
13 |
27,893,230 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5398:Prl7d1
|
UTSW |
13 |
27,894,057 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6798:Prl7d1
|
UTSW |
13 |
27,893,380 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6818:Prl7d1
|
UTSW |
13 |
27,898,454 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6825:Prl7d1
|
UTSW |
13 |
27,894,125 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7478:Prl7d1
|
UTSW |
13 |
27,894,168 (GRCm39) |
nonsense |
probably null |
|
|
R7795:Prl7d1
|
UTSW |
13 |
27,893,263 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7995:Prl7d1
|
UTSW |
13 |
27,894,054 (GRCm39) |
missense |
probably benign |
|
|
R8193:Prl7d1
|
UTSW |
13 |
27,893,230 (GRCm39) |
missense |
|
|
|
R9313:Prl7d1
|
UTSW |
13 |
27,893,182 (GRCm39) |
missense |
probably benign |
|
|
R9424:Prl7d1
|
UTSW |
13 |
27,894,185 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9430:Prl7d1
|
UTSW |
13 |
27,898,360 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R9733:Prl7d1
|
UTSW |
13 |
27,898,339 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9758:Prl7d1
|
UTSW |
13 |
27,893,260 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
| Predicted Primers |
PCR Primer
(F):5'- GACTTAAGCCACAGAAGAATGC -3'
(R):5'- CCTTTAGAAGGCATAGGTCAAAGG -3'
Sequencing Primer
(F):5'- TCAACAGCTGAAAATGAGTTGAG -3'
(R):5'- GCATAGGTCAAAGGAATACAAACAC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation